Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cholinergic receptor, nicotinic, alpha polypeptide 4
Synonyms:
a4 nicotinic receptor,  alpha4 nAChR,  alpha4-nAChR,  Acra4,  Acra-4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Chrna4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chrna4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Attention defi... ORPHA:98784

The table below shows human diseases predicted to be associated to Chrna4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Severe Primary Trimethylaminuria
Depression, Negative affectivity, Obsessive-compulsive trait, Emotional lability, Aggressive beha... ORPHA:468726
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsa... OMIM:615006
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Enhanceme... OMIM:615127
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit... OMIM:117100
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... ORPHA:139426
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... ORPHA:98818
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Bilateral tonic-cloni... OMIM:616187
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to walk, Tonic seizure, Hypsarr... OMIM:616346
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... OMIM:619970
Lennox-Gastaut Syndrome
Mental deterioration, Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Irr... ORPHA:2382
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Irritability, EEG abnormality, Bilateral tonic-clonic seizure, Restlessness... OMIM:610003
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,... ORPHA:725
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Interictal... OMIM:615400
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t... OMIM:616409
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level OMIM:242870
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spi... OMIM:614018
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hypsarrhyt... OMIM:617113
Epilepsy, Progressive Myoclonic, 8
Falls, Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Truncal ataxia, Gait disturbanc... OMIM:616230
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater... OMIM:617904
Polymyoclonus, Infantile
Ataxia, Myoclonus, Irritability OMIM:263550
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Gait disturbanc... OMIM:618141
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait OMIM:608636
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... OMIM:245570
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive... ORPHA:98764
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Gait ataxia, Absence... OMIM:618587
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... OMIM:619191
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... ORPHA:98820
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Myoclonic Epilepsy Of Infancy
Mental deterioration, EEG with irregular generalized spike and wave complexes, Generalized non-mo... ORPHA:86909
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... ORPHA:140927
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Manganese Poisoning
Memory impairment, Depression, Confusion, Inappropriate laughter, Akinesia, Emotional lability, I... ORPHA:306682
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Focal EEG discharges w... ORPHA:3077
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, EEG with continuous slow activity, Memory impairment,... ORPHA:275864
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Seizure, Febrile seizure (within the age range of 3... OMIM:301008
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:619707
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Rasmussen Subacute Encephalitis
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitive impairment, ... ORPHA:1929
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ... OMIM:619157
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Developmental Delay With Or Without Epilepsy
Ataxia, EEG with frontal focal spikes, Myoclonic seizure, Spastic gait, Seizure, Generalized non-... OMIM:620540
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizure, Bilateral ... OMIM:608105
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:613502
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, EEG abnormality, Focal t... OMIM:617106
Primary Erythromelalgia
Hypothermia ORPHA:90026
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... OMIM:613493
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl... OMIM:617350
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec... OMIM:618534
Epilepsy, Familial Adult Myoclonic, 2
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:607876
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Myeloma, Multiple
Paraproteinemia OMIM:254500
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Abnormal emotion, Motor deterioration, Social and occupational det... ORPHA:168782
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Immunodeficiency 18
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive ... ORPHA:168491
Immunodeficiency 62
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... OMIM:618459
Riboflavin Deficiency
Hypothermia OMIM:615026
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth... OMIM:617166
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... OMIM:300400
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:612692
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (a... OMIM:619913
Familial Infantile Myoclonic Epilepsy
Ataxia, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, Bilateral tonic... ORPHA:352582
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure with focal ... ORPHA:293181
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc... ORPHA:79137
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, Focal-onset s... OMIM:226750
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Spinocerebellar Ataxia 21
Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Cognitive impairme... OMIM:607454
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, EEG abnormality, Bilateral tonic-clonic seizure, Ataxia, Generalized m... OMIM:617836
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Disinhibition, Fronto... OMIM:168605
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa... OMIM:618012
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) ... ORPHA:1942
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Seizure, Akinesia, Aggressive behavior, Dementia OMIM:300894
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:620282
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Corticobasal Syndrome
Memory impairment, Limb myoclonus, Akinesia, Myoclonus, Gait disturbance, Dementia ORPHA:454887
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
N-Acetylglutamate Synthase Deficiency
Confusion, Hypothermia, Cognitive impairment OMIM:237310
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... OMIM:240500
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Seizure, Inability to walk, Akinesia, Myoclonus, Ga... ORPHA:391411
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Cognitive impairment, Progressive cerebellar ataxia ORPHA:98773
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level OMIM:618048
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Immunodeficiency 15B
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... OMIM:615592
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Akinesia, Freezing of gait, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level... OMIM:612783
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... ORPHA:169154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Kufor-Rakeb Syndrome
Seizure, Akinesia, Myoclonus, Aggressive behavior, Gait disturbance, Ataxia, Dementia, Dysphagia OMIM:606693
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Akinesia, Low frustration tolerance, Impulsivit... ORPHA:411602
Postencephalitic Parkinsonism
Depression, Seizure, Akinesia, Dysphagia, Abnormal aggressive, impulsive or violent behavior ORPHA:97349
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Kimura Disease
Increased circulating IgE level ORPHA:482
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 112
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620449
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Classic Progressive Supranuclear Palsy Syndrome
Mental deterioration, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Social and occupa... ORPHA:240071
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607594
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Attention defi... ORPHA:98784
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Immunodeficiency 52
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l... OMIM:617514
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:618394
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... ORPHA:74
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Memory impairment, Akinesia, Gait ataxia, Ataxia, Dementia, Dysphagia, Dysdiadoch... ORPHA:247234
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:620632
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Menkes Disease
Hypothermia OMIM:309400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency 43
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... OMIM:241600
Lafora Disease
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... ORPHA:501
Timothy Syndrome
Hypothermia OMIM:601005
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia OMIM:619705
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Seizure ORPHA:309246
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619510
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:301081
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Irritability, Motor stereotypy, Hypsarrhythmia, Hyperactivity, Bi... ORPHA:447997
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM OMIM:243700
Caffey Disease
Increased circulating antibody level ORPHA:1310
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619752
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Parkinson Disease 17
Akinesia OMIM:614203
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ... OMIM:234200
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function ORPHA:277
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Immunodeficiency 23
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level OMIM:615816
Combined Oxidative Phosphorylation Deficiency 37
Progressive neurologic deterioration, Hypothermia OMIM:618329
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Supranuclear Palsy, Progressive, 2
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Irritability, Dysphagia OMIM:609454
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... OMIM:308240
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:169160
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Parkinson Disease 23, Autosomal Recessive Early-Onset
Dementia, Mental deterioration, Akinesia OMIM:616840
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Congenital Myopathy 9A
Akinesia OMIM:618822
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level OMIM:618752
Sepsis In Premature Infants
Fever, Temperature instability, Hypothermia ORPHA:90051
Dpagt1-Cdg
Ataxia, Head-banging, Seizure, Inability to walk, Epileptic spasm, Stereotypical body rocking, Ak... ORPHA:86309
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Mitochondrial Complex I Deficiency, Nuclear Type 28
Generalized-onset seizure, Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Decreased circulating complement C4 concentration, Reduced ... OMIM:615559
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Generalized tonic seizure, Aggr... OMIM:616393
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Decreased circulating IgG level OMIM:620603
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:331206
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin... ORPHA:3261
Adult-Onset Autosomal Dominant Leukodystrophy
Dementia, Temperature instability, Hypothermia, Cognitive impairment ORPHA:99027
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:620532
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615758
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Irritability, Dysphagia OMIM:601104
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Decreased circulating antibody level ORPHA:397596
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Mental deterioration, Memory impairment, Dementia, Hypothermia, Delirium ORPHA:79282
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612782
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Pgm3-Cdg
Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re... ORPHA:443811
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Cognitive impairment ORPHA:488632
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Aceruloplasminemia
Memory impairment, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Ataxia ORPHA:48818
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia ORPHA:20
Choreoacanthocytosis
Mental deterioration, Emotional lability, Hair-pulling, Loss of ambulation, Dysphagia, Socially i... ORPHA:2388
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level OMIM:226990
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Hypothermia ORPHA:90674
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level OMIM:616005
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Ethylene Glycol Poisoning
Confusion, Hypothermia ORPHA:31826
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Seizure OMIM:225790
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Generalized tonic seizure, Akinesia, Seizure OMIM:619147
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Neuroleptic Malignant Syndrome
Delirium, Fever, Hypothermia ORPHA:94093
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Gaucher Disease, Perinatal Lethal
Progressive neurologic deterioration, Akinesia, Dysphagia, Seizure OMIM:608013
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability OMIM:608643
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short attention span, Hypothermia ORPHA:17
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... ORPHA:297
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Alexander Disease
Hypothermia ORPHA:58
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619802
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia ORPHA:255210
Congenital Myopathy 12
Akinesia OMIM:612540
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Leishmaniasis
Increased circulating antibody level ORPHA:507
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgG level, Increas... ORPHA:2298
Igg4-Related Kidney Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449395
Tularemia
Increased circulating antibody level ORPHA:3392
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac... OMIM:606367
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati... OMIM:618986
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614700
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... ORPHA:221139
Menkes Disease
Hypothermia ORPHA:565
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve... OMIM:102700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Myoclonic seizure, Fixated interests, Generalized non-... OMIM:620330
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Marburg Hemorrhagic Fever
Confusion, Fever, Hypothermia ORPHA:99826
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Reduced circulating complement concentration ORPHA:449427
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Pneumocystosis
Increased circulating antibody level ORPHA:723
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Occipital Horn Syndrome
Hypothermia ORPHA:198
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Hereditary Sensory And Autonomic Neuropathy Type 4
Unexplained fevers, Short attention span, Hypothermia, Recurrent fever ORPHA:642
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypothermia ORPHA:293987
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity OMIM:301078
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level ORPHA:79078
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Lassa Fever
Increased circulating IgM level ORPHA:99824
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level OMIM:613385
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Aspergillosis
Increased circulating IgE level ORPHA:1163
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased specific pneumococcal antibody level, Decreased circul... ORPHA:183675
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:90363
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
African Trypanosomiasis
Seizure, Difficulty walking, Akinesia, Irritability, Aggressive behavior, Gait disturbance, Delir... ORPHA:3385
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio... OMIM:208900
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:79329
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Sarcoidosis
Fever, Hypothermia ORPHA:797
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level OMIM:613327
Scleromyxedema
Paraproteinemia ORPHA:167635
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia ORPHA:438213
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level ORPHA:2314
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:125
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Selective Igm Deficiency
Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total... ORPHA:331235
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... ORPHA:353281
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l... ORPHA:3132
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula... OMIM:242840
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level OMIM:620565
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Viss Syndrome
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level OMIM:619472
Autoinflammatory Disease, Systemic, With Vasculitis
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:620376
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Monosomy 22Q13.3
Bruxism, Hyperactivity, Seizure, Hair-pulling ORPHA:48652
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level ORPHA:505248
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259<